ClinVar Miner

Submissions for variant NM_001022.4(RPS19):c.357-6C>T

gnomAD frequency: 0.00001  dbSNP: rs529093944
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002109558 SCV002393376 likely benign Diamond-Blackfan anemia 2023-10-11 criteria provided, single submitter clinical testing

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